Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA

A 25-year-old Brazilian man presented with an 8-year history of progressive myoclonic epilepsy. Familial history disclosed a Japanese paternal grandmother with late-onset parkinsonism-dementia and a paternal uncle with atypical parkinsonism. Examination showed myoclonic jerks, ataxia, and brisk tendon reflexes. Brain MRI showed diffuse leukodystrophy (figure). Genetic testing (supplemental material on the Neurology ® Web site at [Neurology.org][1]) exhibited 70/35 CAG expansions in the ATN1 gene, diagnostic of dentatorubral-pallidoluysian atrophy (DRPLA). [1]: http://neurology.org/lookup/doi/10.1212/WNL.0000000000002356